ArticleJournal of human genetics2004
Periaxin mutation causes early-onset but slow-progressive Charcot-Marie-Tooth disease.
Article in Journal of human genetics, 2004. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers, 1 of them a synthesis that pooled it.
What it found
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Who cites it
20 citing papers in PubMed, 1 synthesis or guideline pooled it, 55 citations in OpenAlex.
- Systematic review and meta-analysis of bulk RNAseq studies in human Alzheimer's disease brain tissue.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2025Pooled it
- Junctions in Jeopardy: the neuromuscular junction is a selective pathological target in Charcot-Marie-Tooth disease.Mammalian genome : official journal of the International Mammalian Genome Society · 2026Review
- Time-Resolved Proteomic Analysis in Zebrafish Using Bioorthogonal Noncanonical Amino Acid Tagging.Journal of proteome research · 2026Article
- Novel genetic and nerve imaging characterization of Charcot-Marie-Tooth disease type 4F.Neurogenetics · 2026Article
- Hereditary Polyneuropathies in the Era of Precision Medicine: Genetic Complexity and Emerging Strategies.Genes · 2026Review
- Systematic review and meta-analysis of bulk RNAseq studies in human Alzheimer's disease brain tissue.bioRxiv : the preprint server for biology · 2024Article
- The intrinsically disordered protein glue of the myelin major dense line: Linking AlphaFold2 predictions to experimental data.Biochemistry and biophysics reports · 2023Article
- Screening forFrontiers in neurology · 2023Article
- Vitamin C regulates Schwann cell myelination by promoting DNA demethylation of pro-myelinating genes.Journal of neurochemistry · 2021Article
- Flexible Players within the Sheaths: The Intrinsically Disordered Proteins of Myelin in Health and Disease.Cells · 2020Review
- Novel mutation in the periaxin gene causal to Charcot-Marie-Tooth disease type 4F.The Journal of international medical research · 2020Article
- A murine model of Charcot-Marie-Tooth disease 4F reveals a role for the C-terminus of periaxin in the formation and stabilization of Cajal bands.Wellcome open research · 2018Article
- The use of whole-exome sequencing to disentangle complex phenotypes.European journal of human genetics : EJHG · 2016Article
- Novel Compound Heterozygous Nonsense PRX Mutations in a Korean Dejerine-Sottas Neuropathy Family.Journal of clinical neurology (Seoul, Korea) · 2015Article
- Nuclear export of L-periaxin, mediated by its nuclear export signal in the PDZ domain.PloS one · 2014Article
- Charcot-Marie-Tooth disease and intracellular traffic.Progress in neurobiology · 2012Review
- Late-onset Charcot-Marie-Tooth disease 4F caused by periaxin gene mutation.Neurogenetics · 2012Article
- Charcot-marie-tooth disease: seventeen causative genes.Journal of clinical neurology (Seoul, Korea) · 2006Article
- Periaxin mutation in Japanese patients with Charcot-Marie-Tooth disease.Journal of human genetics · 2006Article
- Autosomal-recessive forms of demyelinating Charcot-Marie-Tooth disease.Neuromolecular medicine · 2006Review
Corrections and comments
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Authors and funding
8 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Periaxin (PRX) plays a significant role in the myelination of the peripheral nerve. To date, seven non-sense or frameshift PRX mutations have been reported in six pedigrees with Dejerine-Sottas neuropathy or severe Charcot-Marie-Tooth neuropathy (CMT). We detected a PRX mutation in three patients in the screening of 66 Japanese demyelinating CMT patients who were negative for the gene mutation causing dominant or X-linked demyelinating CMT. Three unrelated patients were homozygous for a novel R1070X mutation and presented early-onset but slowly progressive distal motor and sensory neuropathies. Mutations lacking the carboxyl-terminal acidic domain may show loss-of-function effects and cause severe demyelinating CMT.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.